Portal de Periódicos da CAPES

Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance

2021; Wiley; Volume: 43; Issue: 1 Linguagem: Inglês

10.1002/humu.24293

1098-1004

Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, G. Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza Maria Valente, Vincenzo Leuzzi,

Cancer-related Molecular Pathways

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations.We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus.Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging.A third unrelated patient showed normal